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Spinal muscular atrophy with progressive myoclonic epilepsy

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Spinal muscular atrophy with progressive myoclonic epilepsy
Classification and external resources
OMIM 159950

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) — is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy) combined with progressive myoclonus epilepsy.[1]

SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner.[2]

As with many genetic disorders, there is no known cure to SMA-PME.

See also Edit

Spinal muscular atrophies

References Edit

  1. DOI:10.1055/s-2002-37087
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  2. DOI:10.1016/j.ajhg.2012.05.001
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Category:Spinal muscular atrophy with progressive myoclonic epilepsy

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